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Cystathioninuria

Known as: High urine cystathionine levels 
An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased… Expand
National Institutes of Health

Papers overview

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2008
2008
Human cystathionine-gamma-lyase (CGL) is a pyridoxal-5'-phosphate (PLP)-dependent enzyme, which functions in the transsulfuration… Expand
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2005
2005
Mitochondrial depletion syndrome (MDS) refers to a heterogeneous group of mitochondrial disorders characterized by a reduction of… Expand
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Highly Cited
2003
Highly Cited
2003
Hereditary cystathioninuria (MIM 219500) is presumed to be caused by deficiency of the activity of cystathionine gamma-lyase… Expand
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1983
1983
Abstract Concentrations of pyridoxal-5'-phosphate in blood and urine of infants, children and adults as well as in various human… Expand
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Highly Cited
1978
Highly Cited
1978
We studied a six-month-old infant with severe megaloblastic anemia, coma and hyperpigmentation of the extremities. He was found… Expand
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Highly Cited
1969
Highly Cited
1969
A transistor amplifier including a bipolar transistor supplied with an input signal and a field effect transistor which is… Expand
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1968
1968
Cystathionine is not normally present in urine and only a few cases of congenital cystathioninuria are known. Cystathioninuria… Expand
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1967
1967
CONGENITAL cystathioninuria was first described by Harris et al.1 in 1959, and since then only 3 additional cases of this unusual… Expand
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Highly Cited
1963
Highly Cited
1963
It is now becoming generally noted that many diseases of hitherto unknown aetiology are due to inborn errors of metabolism in the… Expand
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1963
1963
  • Leiv R. Gjessing
  • Scandinavian journal of clinical and laboratory…
  • 1963
  • Corpus ID: 10464052
1) An unusual ninhydrin-positive compound was found in urines from 6 cases of functional neural tumors with help of high voldtage… Expand
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